(Q35762931)

10 August 2017

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon (English)

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10 August 2017

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3

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10 August 2017

9

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10 August 2017

Elisa Pisaneschi

1

1 reference

10 August 2017

Pietro Sirleto

2

1 reference

10 August 2017

Silvia Genovese

4

1 reference

10 August 2017

Maria Lisa Dentici

5

1 reference

10 August 2017

Stefano Petrocchi

6

1 reference

10 August 2017

Adriano Angioni

7

1 reference

10 August 2017

Maria Cristina Digilio

8

1 reference

10 August 2017

3 September 2015

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10 August 2017

1 reference

10 August 2017

16

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10 August 2017

78

1 reference

https://scigraph.springernature.com/pub.10.1186/s12881-015-0225-7

10 August 2017

0 references

cites work

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Mutation update on the CHD7 gene involved in CHARGE syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Integrative genomics viewer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Mutations in the CHD7 gene: the experience of a commercial laboratory

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Characterization of the CHD family of proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

A mammalian DNA-binding protein that contains a chromodomain and an SNF2/SWI2-like helicase domain

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Balanced t(6;8)(6p8p;6q8q) and the CHARGE association

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

GTP-binding mutants of rab1 and rab2 are potent inhibitors of vesicular transport from the endoplasmic reticulum to the Golgi complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4559162

[Molecular diagnosis of CHARGE syndrom]

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26334530

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12881-015-0225-7

1 reference

Dimensions Publication ID

10 August 2017

0 references

1 reference

10 August 2017

1 reference